American Society of Human Genetics (ASHG)

Check Out Our 16 Posters and 6 Oral Presentations Exemplifying our Evidence-Based Quality Testing


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Scientific Posters

Poster # 679W

Wednesday, October 18, 2017 2:00 - 3:00pm

Yuan Tian, Shuwei Li, Mary Helen Black, Aaron Elliott, Dajun Qian. A model averaging approach for improved in silico variant prediction.

Poster # 517W

Wednesday, October 18, 2017 2:00 - 3:00pm

Sam Martin, Lily Hoang, Jill Dolinsky, Christian Antolik, Brittany Dougall, Tami Johnston, Brissa Martin. All in the Family: How Family History Affects Diagnostic Yield of Hypertrophic Cardiomyopathy Multigene Panel Testing.

Poster # 2470W ‡

Wednesday, October 18, 2017 3:00 - 4:00pm

Rhonda Lassiter, Jing Wang, Elaine C. Weltmer, Jade Tinker, Heather Newman, Tiffiney Carter, Shoji Ichikawa, Adam Chamberlin, Igor Petrik, Rachid Karam, Tina Pesaran. Attacking a VUS from multiple angles: An integrated and functional approach for reclassifying variants of uncertain significance..

Poster # 590W

Wednesday, October 18, 2017 3:00 - 4:00pm

Samin Sajan, Sheila Saliganan, Katherine Helbig, Brady Barrows, Rocio Martinez, Zöe Powis, Rebecca Burns, Luis Rohena, Jamie A. Massie, Elizabeth Spiteri, Wendy Alcaraz. Clinical exome sequencing identifies a homozygous whole-gene deletion of DPY19L2 that was not detected by a high-density single nucleotide polymorphism (SNP) array.

Poster # 2380W

Wednesday, October 18, 2017 3:00 - 4:00pm

Holly LaDuca, Carin Espenschied, Jill Dolinsky, Laura Panos Smith, Kelly Fulk, Melissa Pronold, Carrie Horton, Fergus J. Couch, Brigette Tippin Davis. Exploration of germline mutation burden in a hereditary cancer panel cohort identifies gaps in cancer risk associations and testing and management guidelines..

Poster # 1537W

Wednesday, October 18, 2017 3:00 - 4:00pm

Brian Schoenfeld, Meghan Towne, Holly LaDuca, Patrick Reineke, Huy Vuong, Sha Tang. Hitting the target: An analysis of noncoding alterations as captured by panels and diagnostic exome sequencing at a commercial lab.

Poster # 986T

Thursday, October 19, 2017 2:00 - 3:00pm

Mari Rossi, Katalin Scherer, Maureen Galindo, Kelly Radtke, Zöe Powis, Deepali Shinde. A novel de novo alteration in SLC12A6 in a patient with early onset severe progressive sensorimotor polyneuropathy and abnormal EEG.

Poster # 2420T

Thursday, October 19, 2017 2:00 - 3:00pm

Lan Qin, Jing Wang, Lily Hoang, Tami Johnston, Jill Dolinsky, Tina Pesaran, Christian Antolik. Diagnostic yield and mutation spectrum of multigene panel testing for hypertrophic cardiomyopathy.

Poster # 2558T

Thursday, October 19, 2017 3:00 - 4:00pm

Jessica Mester, Rajarshi Ghosh, Tina Pesaran, Rachid Karam, Robert Huether, Kathleen Hruska, Helio Costa, Katherine Lachlan, Joanne Ngeow, Jill Barnholtz-Sloan, Liying Zhang, Kaitlin Sesock, Sharon Plon, Madhuri Hegde, Charis Eng. Gene-specific criteria for PTEN variant curation..

Poster # 2471T

Thursday, October 19, 2017 2:00 - 3:00pm

Elaine C. Weltmer, Rhonda Lassiter, Shoji Ichikawa, Tina Pesaran, Jade Tinker, Heather Newman, Tiffiney Carter, Negar Ghahramani, Lucia Guidugli, Jing Wang. Parental variant study is informative for variant classification in significant number of neurodevelopment genes.

Poster # 692T

Thursday, October 19, 2017 3:00 - 4:00pm

Mary Helen Black, Shuwei Li, Brice Sarver, Aaron Elliott, Hsiao-Mei Lu. Type 2 Diabetes Susceptibility Variants Contribute to Breast Cancer Risk.

Poster # 597F

Friday, October 20, 2017 11:30 - 12:30pm

Kate Krempely, Carin Espenschied, Ira Lu, Adam Chamberlin, Rachid Karam. Beyond the NMD Boundary: Characterizing the Phenotypes of C-terminal CDH1 Mutations.

Poster # 2376F

Friday, October 20, 2017 12:30 - 1:30pm

Jacob Clifford, Mary Helen Black, Aaron Elliott, Hsiao-Mei Lu, Shuwei Li. Comparison of variant classification algorithms incorporating clinical and family history for breast and ovarian cancer..

Poster # 2529F

Friday, October 20, 2017 11:30 - 12:30pm

Cameron Mroske, Jesse Hunter, Katherine Helbig, Deepali Shinde. Diagnostic Exome Sequencing (DES) coupled with rules-based candidate gene analysis identifies a causative RRAS lesion in a patient with a novel RASopathy. .

Poster # 621F

Friday, October 20, 2017 11:30 - 12:30pm

Carrie Horton, Holly LaDuca, Jessica Grzybowski, Chia-Ling Gau. Role of HOXB13 in breast and ovarian cancer: Preliminary data from a laboratory-based multigene panel testing cohort..

Poster # 2418F‡

Friday, October 20, 2017 12:30 - 1:30pm

Shuwei Li, Jacob Clifford, Dajun Qian, Yuan Tian, Aaron Elliott, Hsiao-Mei Lu, Mary Helen Black. Tumor characteristics provide evidence for MMR variant pathogenicity.

Oral Presentations

Session # 18, Abstract Program #82

Wednesday, October 18, 2017 12:15 - 12:30pm

Dajun Qian.  Gene-specific allele frequency thresholds for benign evidence to empower variant interpretation

Session # 13, Abstract Program #52

Wednesday, October 18, 2017 10:15 - 10:30am

AJ Stuenkel. Coverage matters: High rate of promoter 1B deletions in a large APC testing cohort

Session # 23, Abstract Program #111

Wednesday, October 18, 2017 12:00 - 12:15pm

Sebastien Kury. De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability

Session # 15, Abstract Program #63

Wednesday, October 18, 2017 12:00 - 12:15pm

Jenna Lilyquist. Prevalence of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.

Session # 58, Abstract Program #229

Friday, October 20, 2017 9:00 - 9:15am

Steven M. Harrison. Resolving variant interpretation differences in ClinVar between 43 clinical laboratories.

Session # 1, Abstract Program #350

Saturday, October 21, 2017 10:00 - 10:15am

Elizabeth Bhoj.  De novo germline variants in Histone 3 Family 3A (H3F3A) and Histone 3 Family 3B (H3F3B) associated with a severe neurodegenerative disorder and functional effect unique from their somatic mutations 

We're Giving a Talk

Beyond DNA: How Functional Assays Enable Precision Diagnosis
Thursday, October 19 | 7:15am

Hyatt Regency Orlando Celebration 1, Convention Level, Orlando, FL 32819 US

Rachid Karam, MD, PhD

Associate Director, ATG Lab Ambry Genetics


Ambry’s ATG lab was launched in 2016 with the goal of reducing the overall number of uncertain and uninformative results on clinical molecular testing through follow-up functional studies. Functional studies performed in the ATG lab include targeted RNA studies for gross duplications and splicing variants of unknown significance, as well as whole transcriptome sequencing (RNA-Seq) for patients with a clear clinical presentation but for whom DNA molecular testing failed to detect an explanatory alteration(s).

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